Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task.
Luciana Senra de Souza SodréRosália Maria Nunes Henriques HuairaFernando Antônio Basile ColugnatiMoises CarminattiLuciane Senra de Souza BragaMarcelo Paula CoutinhoNatália Maria da Silva FernandesPublished in: Jornal brasileiro de nefrologia : 'orgao oficial de Sociedades Brasileira e Latino-Americana de Nefrologia (2021)
We found a prevalence of Fabry disease in 9.47% of relatives of CKD patients with this condition, remarkably with a 66.1% predominance of women, which contrasts with previous reports. The screening of family members of FD patients is important, since it can lead to early diagnosis and treatment, thus allowing better quality of life and improved clinical outcomes for these individuals.
Keyphrases
- chronic kidney disease
- end stage renal disease
- peritoneal dialysis
- replacement therapy
- newly diagnosed
- ejection fraction
- hypertrophic cardiomyopathy
- prognostic factors
- polycystic ovary syndrome
- type diabetes
- emergency department
- heart failure
- adipose tissue
- pregnant women
- metabolic syndrome
- patient reported
- insulin resistance